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A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients
Author(s) -
Bienvenu Thierry,
Hubert Dominique,
Setbon Eric,
Dusser Daniel,
Kaplan JeanClaude,
Beldjord Cherif
Publication year - 1996
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1996)7:2<182::aid-humu19>3.0.co;2-z
Subject(s) - missense mutation , biology , exon , cystic fibrosis transmembrane conductance regulator , mutation , gene , genetics , microbiology and biotechnology , humanities , philosophy